Canonical Allele Identifier: CA507308082

Gene: KMT2B

Linked Data

• ClinVar Variation Id: 1963971
• ClinVar RCV Id: RCV002740183
• dbSNP Id: rs1240744939
• gnomAD v3: 19-35732474-A-G
• gnomAD v4: 19-35732474-A-G
• MyVariant Identifiers: chr19:g.36223375A>G (hg19) ; chr19:g.35732474A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732474A>G , CM000681.2:g.35732474A>G	GRCh38
NC_000019.9:g.36223375A>G , CM000681.1:g.36223375A>G	GRCh37
NC_000019.8:g.40915215A>G	NCBI36
NG_052906.1:g.19456A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.231A>G
ENST00000673918.2:c.5859A>G	ENSP00000501283.1:p.Pro1953=
ENST00000674114.2:c.3466A>G	ENSP00000501039.2:n.3466A>G
ENST00000684977.1:c.1143A>G	ENSP00000509384.1:p.Pro381=
ENST00000689544.1:n.1078A>G
ENST00000691421.1:c.1146A>G	ENSP00000508674.1:p.Pro382=
ENST00000691855.1:c.5467A>G
ENST00000692961.1:c.5925A>G	ENSP00000509289.1:p.Pro1975=
ENST00000693677.1:c.704+145A>G	ENSP00000509779.1:n.704+145A>G
ENST00000420124.4:c.5925A>G MANE Select	ENSP00000398837.2:p.Pro1975=
ENST00000673918.1:c.5859A>G	ENSP00000501283.1:p.Pro1953=
ENST00000674114.1:c.3247A>G
ENST00000420124.2:c.5925A>G	ENSP00000398837.1:p.Pro1975=
NM_014727.2:c.5925A>G	NP_055542.1:p.Pro1975=
XM_011527561.1:c.5859A>G	XP_011525863.1:p.Pro1953=
XM_011527562.1:c.5925A>G	XP_011525864.1:p.Pro1975=
XM_011527563.1:c.5649A>G	XP_011525865.1:p.Pro1883=
XM_011527561.2:c.5361A>G	XP_011525863.2:p.Pro1787=
XM_011527562.2:c.5925A>G	XP_011525864.1:p.Pro1975=
XM_017027544.1:c.5925A>G	XP_016883033.1:p.Pro1975=
XM_017027545.1:c.5361A>G	XP_016883034.1:p.Pro1787=
XM_017027546.1:c.2889A>G	XP_016883035.1:p.Pro963=
NM_014727.3:c.5925A>G MANE Select	NP_055542.1:p.Pro1975=